Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

doi:10.1111/cge.70216

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Article

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Clinical genetics - 1 Oct 2026

Sun Yuanyuan, Wang Leyi, Zhang Liwei, Gu Chunyu, Zhai Chaojun, Wang Hong, Chen Jing, Liu Xiaoyu, Ma Ximeng, Zhang Shuyue, Li Dong, Shu Jianbo, Cai Chunquan

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a group of developmental brain disorders caused by various genetic or acquired factors. OMIM has only recently associated the KCNK3 gene with developmental delay associated with sleep apnea (DDSA). Most prior studies on the KCNK3 gene have focused on PAH and cardiovascular diseases. In a 2-year-old girl presenting with generalized hypotonia and delayed language development,...

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Topics

Animals
Humans
Female
Phenotype
Potassium Channels, Tandem Pore Domain
Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Exome Sequencing

Disease Models, Animal

Mutation, Missense

Drosophila

Genetic Predisposition to Disease

East Asian People

Nerve Tissue Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42496649
DOI: 10.1111/cge.70216
PMCID: PMC13533877

Genes

KCNK3
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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